• 8204 Citations
  • 39 h-Index
1982 …2019
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Fingerprint Dive into the research topics where Maurizio Ferrari is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 8 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
DNA Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Prenatal Diagnosis Medicine & Life Sciences
Denaturing Gradient Gel Electrophoresis Medicine & Life Sciences
Polymerase Chain Reaction Medicine & Life Sciences
Inborn Genetic Diseases Medicine & Life Sciences

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Research Output 1982 2019

  • 8204 Citations
  • 39 h-Index
  • 286 Article
  • 2 Chapter
  • 2 Conference contribution

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

SYNAPS Study Group, 2019, In : Brain. 142, 10, p. 2948-2964 17 p.

Research output: Contribution to journalArticle

Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy

Italian Network for Laminopathies (NIL), Sep 3 2019, In : Annals of Internal Medicine.

Research output: Contribution to journalArticle

Lamin Type A
Cardiomyopathies
Neuromuscular Manifestations
Heart Diseases
Nervous System

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Previtali, S. C., Zhao, E., Lazarevic, D., Pipitone, G. B., Fabrizi, G. M., Manganelli, F., Mazzeo, A., Pareyson, D., Schenone, A., Taroni, F., Vita, G., Bellone, E., Ferrarini, M., Garibaldi, M., Magri, S., Padua, L., Pennisi, E., Pisciotta, C., Riva, N., Scaioli, V. & 11 others, Scarlato, M., Tozza, S., Geroldi, A., Jordanova, A., Ferrari, M., Molineris, I., Reilly, M. M., Comi, G., Carrera, P., Devoto, M. & Bolino, A., Oct 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 10, p. 1171-1179 9 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Genes
Exome
Phenotype
Neuromuscular Diseases
Biopsy
Microarrays
colorectal neoplasms
Circulating Neoplastic Cells
Tumors

A novel LIPS assay for insulin autoantibodies

Liberati, D., Wyatt, RC., Brigatti, C., Marzinotto, I., Ferrari, M., Bazzigaluppi, E., Bosi, E., Gillard, BT., Gillespie, KM., Gorus, F., Weets, I., Balti, E., Piemonti, L., Achenbach, P., Williams, AJK. & Lampasona, V., 2018, In : Acta Diabetologica. 55, 3, p. 263-270 8 p.

Research output: Contribution to journalArticle

Luciferases
Autoantibodies
Insulin
Type 1 Diabetes Mellitus
Proinsulin